Canonical Allele Identifier: CA150721

Gene: PDE4D

Linked Data

• ClinVar Variation Id: 101053
• ClinVar RCV Id: RCV000087311 ; RCV001854509
• dbSNP Id: rs587777188
• MyVariant Identifiers: chr5:g.58270888A>G (hg19) ; chr5:g.58975061A>G (hg38)
• PubMed: PMID:24203977

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.58975061A>G , CM000667.2:g.58975061A>G	GRCh38
NC_000005.9:g.58270888A>G , CM000667.1:g.58270888A>G	GRCh37
NC_000005.8:g.58306645A>G	NCBI36
NG_027957.1:g.1518038T>C
NG_027957.2:g.1554269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.1841T>C	ENSP00000424852.1:p.Ile614Thr
ENST00000340635.11:c.2033T>C MANE Select	ENSP00000345502.6:p.Ile678Thr
ENST00000636120.1:c.1703T>C	ENSP00000490821.1:p.Ile568Thr
ENST00000309641.10:c.1885T>C	ENSP00000308485.6:n.1885T>C
ENST00000317118.12:c.1160T>C	ENSP00000321739.8:p.Ile387Thr
ENST00000340635.10:c.2033T>C	ENSP00000345502.6:p.Ile678Thr
ENST00000358923.10:c.1127T>C	ENSP00000351800.6:p.Ile376Thr
ENST00000360047.9:c.1625T>C	ENSP00000353152.5:p.Ile542Thr
ENST00000405755.6:c.1667T>C	ENSP00000384806.2:p.Ile556Thr
ENST00000502484.6:c.1850T>C	ENSP00000423094.2:p.Ile617Thr
ENST00000503258.5:c.1643T>C	ENSP00000425605.1:p.Ile548Thr
ENST00000505453.1:c.1127T>C	ENSP00000421013.1:p.Ile376Thr
ENST00000507116.5:c.1841T>C	ENSP00000424852.1:p.Ile614Thr
ENST00000515011.5:n.1769T>C
ENST00000546160.5:c.1640T>C	ENSP00000442734.2:p.Ile547Thr
NM_001104631.1:c.2033T>C	NP_001098101.1:p.Ile678Thr
NM_001165899.1:c.1850T>C	NP_001159371.1:p.Ile617Thr
NM_001197218.1:c.1841T>C	NP_001184147.1:p.Ile614Thr
NM_001197219.1:c.1667T>C	NP_001184148.1:p.Ile556Thr
NM_001197220.1:c.1643T>C	NP_001184149.1:p.Ile548Thr
NM_001197221.1:c.1127T>C	NP_001184150.1:p.Ile376Thr
NM_001197222.1:c.1361T>C	NP_001184151.1:p.Ile454Thr
NM_001197223.1:c.1160T>C	NP_001184152.1:p.Ile387Thr
NM_006203.4:c.1625T>C	NP_006194.2:p.Ile542Thr
XM_005248537.2:c.1703T>C	XP_005248594.1:p.Ile568Thr
XM_005248538.3:c.1625T>C	XP_005248595.1:p.Ile542Thr
XM_011543469.1:c.1997T>C	XP_011541771.1:p.Ile666Thr
XM_011543470.1:c.1997T>C	XP_011541772.1:p.Ile666Thr
XM_011543471.1:c.1850T>C	XP_011541773.1:p.Ile617Thr
XM_011543472.1:c.1850T>C	XP_011541774.1:p.Ile617Thr
XM_011543473.1:c.1850T>C	XP_011541775.1:p.Ile617Thr
XM_011543474.1:c.1820T>C	XP_011541776.1:p.Ile607Thr
XM_011543475.1:c.1667T>C	XP_011541777.1:p.Ile556Thr
XM_011543476.1:c.1613T>C	XP_011541778.1:p.Ile538Thr
XM_011543477.1:c.1592T>C	XP_011541779.1:p.Ile531Thr
XM_011543478.1:c.1529T>C	XP_011541780.1:p.Ile510Thr
XM_011543479.1:c.1529T>C	XP_011541781.1:p.Ile510Thr
NM_001349241.1:c.1820T>C	NP_001336170.1:p.Ile607Thr
NM_001349242.1:c.1703T>C	NP_001336171.1:p.Ile568Thr
NM_001349243.1:c.1265T>C	NP_001336172.1:p.Ile422Thr
NM_001364599.1:c.1850T>C	NP_001351528.1:p.Ile617Thr
NM_001364603.1:c.1127T>C	NP_001351532.1:p.Ile376Thr
NM_001364604.1:c.1265T>C	NP_001351533.1:p.Ile422Thr
XM_011543470.2:c.1997T>C	XP_011541772.1:p.Ile666Thr
XM_011543471.2:c.1850T>C	XP_011541773.1:p.Ile617Thr
XM_017009565.1:c.1997T>C	XP_016865054.1:p.Ile666Thr
XM_017009566.1:c.1850T>C	XP_016865055.1:p.Ile617Thr
XM_017009567.1:c.1835T>C	XP_016865056.1:p.Ile612Thr
XM_024446110.1:c.1997T>C	XP_024301878.1:p.Ile666Thr
XM_024446112.1:c.1850T>C	XP_024301880.1:p.Ile617Thr
NM_001104631.2:c.2033T>C MANE Select	NP_001098101.1:p.Ile678Thr
NM_001165899.2:c.1850T>C	NP_001159371.1:p.Ile617Thr
NM_001197218.2:c.1841T>C	NP_001184147.1:p.Ile614Thr
NM_001197219.2:c.1667T>C	NP_001184148.1:p.Ile556Thr
NM_001197220.2:c.1643T>C	NP_001184149.1:p.Ile548Thr
NM_001197221.2:c.1127T>C	NP_001184150.1:p.Ile376Thr
NM_001197222.2:c.1361T>C	NP_001184151.1:p.Ile454Thr
NM_001197223.2:c.1160T>C	NP_001184152.1:p.Ile387Thr
NM_001349241.2:c.1820T>C	NP_001336170.1:p.Ile607Thr
NM_001349243.2:c.1265T>C	NP_001336172.1:p.Ile422Thr
NM_001349242.2:c.1703T>C	NP_001336171.1:p.Ile568Thr
NM_006203.5:c.1625T>C	NP_006194.2:p.Ile542Thr